Updates

January 13, 2021January 13, 2021
4 New COL7A1 Mutations in Self-Improving DEB Identified in Case Report

Four previously unknown disease-causing mutations in the COL7A1 gene are identified in a case report describing the clinical features of five Southeast Asian patients ... Read more
January 11, 2021January 11, 2021
NORD Seeks Speakers for 2021 Virtual ‘Living Rare, Living Stronger’ Forum

The National Organization for Rare Disorders (NORD) is seeking individuals willing to share real-life experiences with rare diseases to speak at its upcoming virtual ... Read more
January 7, 2021January 5, 2021
Wrestling With the ‘Why’ When My Son Is in Pain

Our Christmas started out like most people’s. Well, sort of. We, like many, kept it small this year. On Christmas Eve, we did bath ... Read more
January 6, 2021January 6, 2021
FDA Names Potential Topical Gene Therapy for DEB an Orphan Drug

The U.S. Food and Drug Administration (FDA) has granted orphan drug designation to AP103, a potential topical gene therapy for dystrophic epidermolysis bullosa (DEB). ... Read more
December 22, 2020December 17, 2020
Christmas Is the Season of Family, Love, and Harmony

I know, normally we associate love with February because of Valentine’s Day and all. I even wrote a column about love in February. But ... Read more

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January 23, 2018January 23, 2018

Factors Beyond COL7A1 Mutations May Contribute to Dystrophic EB Forms, Study Suggests

A study from Spain has raised the possibility that the development of dystrophic epidermolysis bullosa (DEB) could be attributable to additional factors besides mutations in the COL7A1 gene. Researchers reached this conclusion after studying three unrelated patients with different forms of ... Read more

Updates

4 New COL7A1 Mutations in Self-Improving DEB Identified in Case Report

NORD Seeks Speakers for 2021 Virtual ‘Living Rare, Living Stronger’ Forum

Wrestling With the ‘Why’ When My Son Is in Pain

FDA Names Potential Topical Gene Therapy for DEB an Orphan Drug

Christmas Is the Season of Family, Love, and Harmony

Subscribe to our mailing list

EB May Be More Common Than Thought in Netherlands, Dutch Study Finds

Cord Blood Platelet Gel Leads to Faster Wound Healing in RDEB Children, Study Says

NORD Push for Rare Disease Advisory Councils Focus of Dec. 16 Public Meeting

A Few of Our Favorite Things

INM-755 Cannabinol Cream Shows Good Safety Profile in Healthy Volunteers

My Favorite Summer Dresses

Survey Finds COVID-19 Disrupted Care, Well-Being of Rare Disease Patients in Europe

Cannabidiol Derivative May Be Effective as EB Treatment, Studies Suggest

When EB Steals Your Cat

Latest NORD Webinar Offers Insights on Starting Nonprofit, Patient Registry

Eddie Vedder Hosts ‘Venture Into Cures,’ Virtual Event Supporting EB Research

1st Patient Treated in Phase 3 Trial of RDEB Gene Therapy, D-Fi

NORD Hosting ‘RareLaunch’ Workshops to Help Start Rare Disease Non-profits

The Difficult Decision in Favor of a Feeding Tube, Part 2

Filsuvez Raises Patients’ Chance of Complete and Quick Wound Healing, Trial Finds

1st RDEB Patient Dosed With PTR-01 Protein Replacement Therapy in Phase 2 Trial

UK Organization ‘Same But Different’ Announces ‘Glimmer of Hope’ Photo Contest Winner

Say Hello to This Year’s Cover Model

The Difficult Decision in Favor of a Feeding Tube, Part 1

Debra Plans Events in US, UK to Mark EB Awareness Week

Telehealth ‘Helpful’ Alternative to In-person Care, Rare Disease Patients Say

Topical Anesthetic May Ease Pain of Dressing Changes With Severe EB, Trial Suggests

Interview With the Butterfly, Part 2

Same But Different Asks Public to Vote on ‘Glimmer of Hope’ Calendar Photos

Factors Beyond COL7A1 Mutations May Contribute to Dystrophic EB Forms, Study Suggests

4 New COL7A1 Mutations in Self-Improving DEB Identified in Case Report

NORD Seeks Speakers for 2021 Virtual ‘Living Rare, Living Stronger’ Forum

Wrestling With the ‘Why’ When My Son Is in Pain

FDA Names Potential Topical Gene Therapy for DEB an Orphan Drug

Christmas Is the Season of Family, Love, and Harmony

Subscribe to our mailing list

In Social Situations, I’m Learning How to Stretch

EB May Be More Common Than Thought in Netherlands, Dutch Study Finds

Cord Blood Platelet Gel Leads to Faster Wound Healing in RDEB Children, Study Says

NORD Push for Rare Disease Advisory Councils Focus of Dec. 16 Public Meeting

A Few of Our Favorite Things

INM-755 Cannabinol Cream Shows Good Safety Profile in Healthy Volunteers

My Favorite Summer Dresses

Survey Finds COVID-19 Disrupted Care, Well-Being of Rare Disease Patients in Europe

Cannabidiol Derivative May Be Effective as EB Treatment, Studies Suggest

When EB Steals Your Cat

Latest NORD Webinar Offers Insights on Starting Nonprofit, Patient Registry

Eddie Vedder Hosts ‘Venture Into Cures,’ Virtual Event Supporting EB Research

1st Patient Treated in Phase 3 Trial of RDEB Gene Therapy, D-Fi

NORD Hosting ‘RareLaunch’ Workshops to Help Start Rare Disease Non-profits

The Difficult Decision in Favor of a Feeding Tube, Part 2

Filsuvez Raises Patients’ Chance of Complete and Quick Wound Healing, Trial Finds

1st RDEB Patient Dosed With PTR-01 Protein Replacement Therapy in Phase 2 Trial

UK Organization ‘Same But Different’ Announces ‘Glimmer of Hope’ Photo Contest Winner

Say Hello to This Year’s Cover Model

The Difficult Decision in Favor of a Feeding Tube, Part 1

Debra Plans Events in US, UK to Mark EB Awareness Week

Telehealth ‘Helpful’ Alternative to In-person Care, Rare Disease Patients Say

Topical Anesthetic May Ease Pain of Dressing Changes With Severe EB, Trial Suggests

Interview With the Butterfly, Part 2

Same But Different Asks Public to Vote on ‘Glimmer of Hope’ Calendar Photos